| Rank (Similarity) |
PMID (PMCID) |
|---|
|
|
Total: 37
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000028 | Cryptorchidism | Very frequent (99-80%) |
| HP:0000232 | Everted lower lip vermilion | Very frequent (99-80%) |
| HP:0000252 | Microcephaly | Very frequent (99-80%) |
| HP:0000286 | Epicanthus | Very frequent (99-80%) |
| HP:0000316 | Hypertelorism | Very frequent (99-80%) |
| HP:0000325 | Triangular face | Very frequent (99-80%) |
| HP:0000543 | Optic disc pallor | Very frequent (99-80%) |
| HP:0000649 | Abnormality of visual evoked potentials | Very frequent (99-80%) |
| HP:0000708 | Behavioral abnormality | Very frequent (99-80%) |
| HP:0000713 | Agitation | Very frequent (99-80%) |
| HP:0000729 | Autistic behavior | Very frequent (99-80%) |
| HP:0000750 | Delayed speech and language development | Very frequent (99-80%) |
| HP:0000767 | Pectus excavatum | Very frequent (99-80%) |
| HP:0000964 | Eczema | Very frequent (99-80%) |
| HP:0001054 | Numerous nevi | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001252 | Muscular hypotonia | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0002079 | Hypoplasia of the corpus callosum | Very frequent (99-80%) |
| HP:0002119 | Ventriculomegaly | Very frequent (99-80%) |
| HP:0002521 | Hypsarrhythmia | Very frequent (99-80%) |
| HP:0003236 | Elevated serum creatine kinase | Very frequent (99-80%) |
| HP:0003282 | Low alkaline phosphatase | Very frequent (99-80%) |
| HP:0003700 | Generalized amyotrophy | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0004691 | 2-3 toe syndactyly | Very frequent (99-80%) |
| HP:0005280 | Depressed nasal bridge | Very frequent (99-80%) |
| HP:0007328 | Impaired pain sensation | Very frequent (99-80%) |
| HP:0009908 | Anterior creases of earlobe | Very frequent (99-80%) |
| HP:0010554 | Cutaneous finger syndactyly | Very frequent (99-80%) |
| HP:0011265 | Cleft earlobe | Very frequent (99-80%) |
| HP:0011343 | Moderate global developmental delay | Very frequent (99-80%) |
| HP:0012751 | Abnormal basal ganglia MRI signal intensity | Very frequent (99-80%) |
| HP:0030353 | Decreased serum insulin-like growth factor 1 | Very frequent (99-80%) |
| HP:0100739 | Bulimia | Very frequent (99-80%) |
| HP:0002123 | Generalized myoclonic seizures | Frequent (79-30%) |
| HP:0002788 | Recurrent upper respiratory tract infections | Frequent (79-30%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|